Year: 2022
Type: erratum
Abstract: Jawad syndrome (JWDS) (MIM #251255) is a multiple congenital anomaly and intellectual disability (ID) syndrome characterized by congenital microcephaly, facial dysmorphism, digital anomalies, onychodysplasia, and white spots on hands and feet present in all adult patients.So far, only two families have been reported, hereafter referred to as F1 and F2.1,2 Both families originate from Pakistan and carry mutation (NM_002894.3:c.1808-1809delTA;p.[Ile603Lysfs*7]) in RBBP8. 2We recruited two new families (F3 and F4) afflicted with JWDS from distant areas of Pakistan.After getting informed consents from parent(s)/guardians, clinical details were documented.Approval of this study was obtained by the Ethical Review Board of the National Institute for Biotechnology and Genetic Engineering (NIBGE), Pakistan.In F3, phenotypic variability with respect to height, digital anomalies, white spots, and nail dysplasia was observed (Figure 1(A)).F4 showed Funding was awarded by Koeln Fortune Program, University of Cologne (Muhammad Sajid Hussain) (381/2020) and the Center for
Source: Clinical Genetics
DOI: 10.1111/cge.14092
Language: English
Open Access status: green
OpenAlex ID: W4206649741