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Corrigendum to: Clinical spectrum and management of imprinting disorders
This erratum corrects the original online version which can be found here:
https://doi.org/10.1515/medgen-2020-2044
-
Miriam Elbracht
,
Gerhard Binder
Published/Copyright:
May 14, 2021
The authors wish to correct the legends of tables 1 and 2 as follows:
Table 1: Overview on the currently known imprinting disorders, their major molecular findings and main clinical features. (GOM, gain of methylation; IUGR, intrauterine growth restriction; MLID, multilocus imprinting disturbance; LOM, loss of methylation; PNGR, postnatal growth restriction; PTH, parathyroid hormone; upd, uniparental disomy)
Table 2: The recently consented clinical diagnostic criteria for SRS, BWS and iPPSDs (4) (5) (6) which might help to decide on the molecular diagnostic testing procedure. For the established diagnostic criteria for PWS and AS we refer to GeneReviews. (PTH parathyroid hormone, TSH thyroid stimulating hormone)
In addition, “parental” was incorrectly named as “paternal” in several places in table 1. A corrected version of table 1 is provided.
Table 1
Overview on the currently known imprinting disorders, their major molecular findings and main clinical features. (GOM, gain of methylation; IUGR, intrauterine growth restriction; MLID, multilocus imprinting disturbance; LOM, loss of methylation; PNGR, postnatal growth restriction; PTH, parathyroid hormone; upd, uniparental disomy).
| Imprinting disorder OMIM# | Prevalence | Chromosome | Molecular defects (frequency) | Reccurrence risk | MLID | Main clinical features |
| Transient neonatal diabetes mellitus (TNDM) 601410 | 1/300,000 | 6q24 | upd(6)pat (41 %) | low | IUGR, transient diabetes mellitus, hyperglycaemia without ketoacidosis, macroglossia, abdominal wall defects | |
| dup(6q24)pat (33 %) | familial structural variants possible | |||||
| PLAGL1:alt-TSS-DMR, LOM (26 %) | in case of MLID: autosomal recessive ZFP57 mutations | 50 % | ||||
| Silver–Russell syndrome (SRS) 180860 | 1/75,000–1/100,000 | 7 | upd(7)mat (7–10 %) | only one familial translocation reported | 1 case | IUGR, PNGR, relative macrocephaly at birth, body asymmetry, prominent forehead, feeding difficulties |
| 11p15.15 | upd(11p15)mat (1 case) | not increased | ||||
| dup(11p15)mat (<1 %) | familial structural variants possible | |||||
| H19/IGF2:IG:DMR, LOM (40 %) | in case of MLID: maternal effect variants possible (familial) CNVs, SNVs in cis causing LOM reported in rare cases | 10 % | ||||
| CDKN1C, IGF2, HMGA2, PLAG1 point mutations | autosomal-dominant inheritance with parental imprinting | |||||
| Birk–Barel syndrome 612292 | unknown | 8q24.3 | KCNK9 point mutations | autosomal-dominant inheritance with parental imprinting | Intellectual disability, hypotonia, dysmorphism | |
| Beckwith–Wiedemann syndrome (BWS) 130650 | 1/15,000 | 11p15.5 | upd(11p15)pat (20 %) | no | Macroglossia, exomphalos, lateralized overgrowth, Wilms tumor or nephroblastomatosis, hyperinsulinism, adrenal cortex cytomegaly, placental mesenchymal dysplasia, pancreatic adenomatosis | |
| dup(11p15)pat (2–4 %) | familial structural variants possible | |||||
| H19/IGF2:IG-DMR, GOM (4 %) | OCT4 binding site SNVs in 10 %, might be heritable | |||||
| KCNQ1OT1:TSS-DMR, LOM (50 %) | in case of MLID: maternal effect variant | 25 % | ||||
| CDKN1C point mutations (5 % sporadic; familial 25–50 %) | autosomal-dominant inheritance with parental imprinting | |||||
| Temple syndrome (TS14) 616222 | unknown | 14q32 | upd(14)mat (70 %) | familial structural variants possible | IUGR, PNGR, neonatal hypotonia, feeding difficulties in infancy, truncal obesity, scoliosis, precocious puberty, small feet and hands | |
| del(14q32)pat (10 %) | familial structural variants possible | |||||
| MEG3/DLK1:IG-DMR, LOM (20 %) | low | single cases | ||||
| Kagami–Ogata syndrome (KOS14) 608149 | unknown | 14q32 | upd(14)pat (70 %) | familial structural variants possible | IUGR, polyhydramnion, abdominal wall defects, bell-shaped thorax, coat-hanger ribs | |
| del(14q32)mat (20 %) | familial structural variants possible | |||||
| MEG3/DLK1:IG-DMR, GOM (10 %) | low | |||||
| (familial) Central Precocious Puberty (CPPB) | unknown | 14q32 | DLK1 point mutations | autosomal-dominant inheritance with parental imprinting | Central precocious puberty | |
| Prader–Willi syndrome (PWS) 176270 | 1/25,000–1/10,000 | 15q11q13 | del(15q11q13)pat (70–75 %) | familial structural variants possible | PNGR, Intellectual disability, neonatal hypotonia, hypogenitalism, hypopigmentation, obesity, hyperphagia | |
| upd(15)mat (25–30 %) | familial structural variants possible | |||||
| SNURF:TSS-DMR, GOM (1 %) | 0–15 % due to an IC deletion | 1 case | ||||
| Angelman syndrome (AS) 105830 | 1/20,000–1/12,000 | 15q11q13 | del(15q11q13)mat (75 %) | familial structural variants possible | Severe intellectual disability, microcephaly, no speech, unmotivated laughing, ataxia, seizures, scoliosis | |
| upd(15)pat (1–2 %) | familial structural variants possible | |||||
| SNURF:TSS-DMR, LOM (1 %) | 0–15 % due to an IC deletion | |||||
| UBE3A point mutations (10 %) | autosomal-dominant inheritance with parental imprinting | |||||
| Central precocious puberty 2 (CPPB2) 615356 | Unknown | 15q11.2 | MKRN3 point mutations | autosomal-dominant inheritance with parental imprinting | Early activation of the hypothalamic–pituitary–gonadal axis resulting in gonadotropin-dependent precocious puberty | |
| Schaaf–Yang syndrome (SYS) 615547 | Unknown | 15q11.2 | MAGEL2 point mutations | autosomal-dominant inheritance with parental imprinting | Delayed psychomotor development, intellectual disability, hypotonia | |
| Pseudohypoparathyroidism 1B (PHP1B) 603233 | Unknown | 20q13 | del(20q13)mat (single cases) | familial structural variants possible | Resistance to PTH and other hormones, Albright hereditary osteodystrophy, subcutaneous ossifications, feeding behaviour anomalies, abnormal growth patterns | |
| GNAS DMRs, LOM (>60 %) | familial (structural) variants possible, maternal effect variants in case of MLID | 12.5 % | ||||
| upd(20)pat (2–20 %) | familial structural variants possible | |||||
| GNAS point mutations | autosomal-dominant inheritance with parental imprinting | |||||
| Mulchandani–Bhoj–Conlin syndrome (MBCS) 617352 | Unknown | 20 | upd(20)mat | familial structural variants possible | IUGR, PNGR, feeding difficulties |
Published Online: 2021-05-14
Published in Print: 2021-04-27
© 2021 Elbracht et al., published by De Gruyter
This work is licensed under the Creative Commons Attribution 4.0 International License.
Articles in the same Issue
- Frontmatter
- MAIN TOPIC: Updates on Common Issues in Human Genetic Practice
- Genetic counseling in times of genomic analyses – current aspects of common topics in human genetics practice
- Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage
- Carrier testing for autosomal recessive disorders: a look at current practice in Germany
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- Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X-Syndrom und andere FMR1-assoziierte Syndrome
- Erratum zu den Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom
- Zur Geschichte der Humangenetik
- Die Humangenetische Beratung in der DDR
- Personalia
- Personalia
- GfH-Verbandsmitteilungen
- Berichte aus den GfH-Kommissionen und von den Delegierten
- BVDH-Verbandsmitteilungen
- Relaunch der HGQN-Datenbank
- VPAH-Verbandsmitteilungen
- Protokoll der 30. Ordentlichen Mitgliederversammlung des VPAH e. V. Köln, den 12.09.2020, 13:25 bis 15:00 Uhr
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Articles in the same Issue
- Frontmatter
- MAIN TOPIC: Updates on Common Issues in Human Genetic Practice
- Genetic counseling in times of genomic analyses – current aspects of common topics in human genetics practice
- Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage
- Carrier testing for autosomal recessive disorders: a look at current practice in Germany
- Inherited disorders of intermediary metabolism – a group-based approach
- Genetic counseling and the role of genetic counselors in the United States
- Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop
- Genetic counseling: development of requirements, contents, and quality management in Germany
- Telemedicine – chances and challenges for medical genetics in Germany
- Corrigendum to: Clinical spectrum and management of imprinting disorders
- BERICHTE AUS DER HUMANGENETIK
- Stellungnahmen und Leitlinien
- Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X-Syndrom und andere FMR1-assoziierte Syndrome
- Erratum zu den Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom
- Zur Geschichte der Humangenetik
- Die Humangenetische Beratung in der DDR
- Personalia
- Personalia
- GfH-Verbandsmitteilungen
- Berichte aus den GfH-Kommissionen und von den Delegierten
- BVDH-Verbandsmitteilungen
- Relaunch der HGQN-Datenbank
- VPAH-Verbandsmitteilungen
- Protokoll der 30. Ordentlichen Mitgliederversammlung des VPAH e. V. Köln, den 12.09.2020, 13:25 bis 15:00 Uhr
- Aktuelle Nachrichten
- Aktuelle Nachrichten
