Identification of a novel large intragenic deletion in a family with Fanconi anemia: First molecular report from India and review of literature

Shukla, Pallavi; Rao, Anita; Ghosh, Kanjaksha; Vundinti, Babu Rao

doi:10.1016/j.gene.2013.01.016

Cited by 9 publications

(7 citation statements)

References 23 publications

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“…However, studies on FA complementation groups are not much known from the Indian subcontinent. Our lab is the first to be reporting FA cases from India (Donovan et al, 2019; Shukla et al, 2013; Solanki et al, 2016, 2017). This is the first study in a large cohort ( n = 181) of FA subjects from India.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

et al. 2021

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Fanconi anemia (FA) is a rare autosomal or X-linked genetic disorder characterized by chromosomal breakages, congenital abnormalities, bone marrow failure (BMF), and cancer. There has been a discovery of 22 FANC genes known to be involved in the FA pathway. This wide number of pathway components makes molecular diagnosis challenging for FA. We present here the most comprehensive molecular diagnosis of FA subjects from India. We observed a high frequency (4.42 ± 1.5 breaks/metaphase) of chromosomal breakages in 181 FA subjects. The major clinical abnormalities observed were skin pigmentation (70.2%), short stature (46.4%), and skeletal abnormalities (43.1%), along with a few minor clinical abnormalities.

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Section: Discussionmentioning

confidence: 99%

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

et al. 2021

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“…There have been a limited number of reports on the genetic etiology of FA in populations from South Asia and the Middle East. Such studies have identified several novel disease‐causing germline genetic variants, including the first reports of FA caused by pathogenic variants in FANCO / RAD51C or FANCE (Aftab et al, 2017 ; Aslan et al, 2015 ; Aymun et al, 2017 ; Balta et al, 2000 ; Castella et al, 2011 ; de Winter et al, 2000 ; Donovan et al, 2019 ; Dorsman et al, 2007 ; Esmail Nia et al, 2016 ; Ghazwani et al, 2016 ; Gille et al, 2012 ; Kalb et al, 2007 ; Koc et al, 1999 ; Levran et al, 1997 ; Moghadam et al, 2016 ; Salem et al, 2014 ; Shahid et al, 2019 ; Shamseldin et al, 2012 ; Shukla et al, 2013 ; Solanki et al, , 2016 , 2017 ; Tamary et al, , 2000 , 2004 ; Vaz et al, 2010 ; Vundinti, 2014 ; Waisfisz et al, 1999 ; Wegner et al, 1996 ; Wijker et al, 1999 ; Zareifar et al, 2019 ) as well as discovery of a founder mutation in FANCL (Donovan et al, 2019 ), highlighting the importance of germline genetic studies of FA in underrepresented regions. In this report, we evaluated the genetic causes of FA in 19 patients from 17 unrelated families being considered for HCT in Pakistan and conducted a detail review of the causes of FA in South Asia and the Middle East.…”

Section: Introductionmentioning

confidence: 99%

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

Thompson

Saba

McReynolds

et al. 2021

Molec Gen & Gen Med

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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 and compound heterozygous variants were present in 12 and two families, respectively. Nine families carried variants previously reported as pathogenic, including two families with the South Asian FANCL founder variant. We also identified five novel likely deleterious variants in FANCA, FANCF, and FANCG in affected patients. Conclusions Our study supports the importance of determining the genomic landscape of FA in diverse populations, in order to improve understanding of FA etiology and assist in the counseling of families.

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“…In their study, using Multiplex ligation-dependent probe amplification (MLPA) method they identified a novel homozygous large intragenic deletion (exons 8-27 del) in the FANCA gene (SHUKLA et al, 2013b). Their study support the previously reported mutations and suggested that FA patients exhibited high frequency defects in the FANCA gene and large deletions are the most common mutations in this gene (SHUKLA et al, 2013b). VUNDINTI (2014) had first time performed a molecular study in the Indian population.…”

Section: Indiamentioning

confidence: 75%

FANCA and contribution of studies from Asian populations to the understanding of fanca mediated Fanconi anemia

Shahid¹,

Firasat²

2019

Genetika

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Identification of a novel large intragenic deletion in a family with Fanconi anemia: First molecular report from India and review of literature

Cited by 9 publications

References 23 publications

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

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

FANCA and contribution of studies from Asian populations to the understanding of fanca mediated Fanconi anemia

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