Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation-Reference-Cited by-同舟云学术

Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation

Published:2017-04-24 Issue:03 Volume:06 Page:198-204
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Somashekar Puneeth¹,Shukla Anju¹,Siddaiah Satish²,Bhat Venkatraman³,Girisha Katta¹,Rao Pooja⁴,Patil Siddaramappa⁴

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India

2. Department of Pediatric Cardiology, Narayana Institute of Cardiac Sciences, Bangalore, India

3. Department of Radiology, Mazumdar Shaw Medical Center, Bangalore, India

4. Division of Genetics, Mazumdar Shaw Medical Center, Bangalore, India

Abstract

AbstractOhdo syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 (MED12) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0037-1602386.pdf

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1. First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report;Gene Reports;2024-09

2. MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability;American Journal of Medical Genetics Part A;2024-08-30

3. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome;American Journal of Medical Genetics Part A;2024-04-24

4. Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report;Frontiers in Genetics;2023-07-12

5. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes;American Journal of Medical Genetics Part A;2022-10-22