RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Ly...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-12, Vol.167A (12), p.3148-3152
Main Authors: Mumtaz, Sara, Yıldız, Esra, Jabeen, Saliha, Khan, Amjad, Tolun, Aslıhan, Malik, Sajid
Format: Article
Language:English
Subjects:
Adolescent
Adult
anonychia
Brachydactyly - genetics
Brachydactyly - pathology
Carrier Proteins - genetics
consanguineous
Consanguinity
Dwarfism - genetics
Dwarfism - pathology
Female
Homozygote
Humans
inbreeding coefficient
intellectual disability
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
mental retardation
microcephaly
Microcephaly - genetics
Microcephaly - pathology
mutation
Mutation - genetics
Nuclear Proteins - genetics
Pakistani family
Pedigree
Phenotype
Prognosis
RBBP8
short stature
Syndrome
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37299