The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

ABSTRACT:

Background

Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with characteristic dysmorphology primarily caused by biallelic pathogenic germline variants in any of 22 different DNA repair genes. There are limited data on the specific molecular causes of FA in different ethnic groups.

Methods

We performed exome sequencing and copy number variant analyses on 19 patients with FA from 17 families undergoing hematopoietic cell transplantation evaluation in Pakistan. The scientific literature was reviewed, and we curated germline variants reported in patients with FA from South Asia and the Middle East.

Results

The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL. Homozygous

SUBMITTER: Thompson AS 

PROVIDER: S-EPMC8372062 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature