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Volume 12

Journal of Molecular and Genetic Medicine

ISSN: 1747-0862

May 21-23, 2018 Barcelona, Spain

Integrative Biology

International Conference on

Genomics and Molecular Biology

International Conference on

Genomics 2018 and Integrative Biology 2018

May 21-23, 2018

JOINT EVENT

A new case of de novo chromosome 19p13.12 deletion in an Omani girl with global developmental

delay and multiple congenital anomalies

Musallam Al Araimi, Salma Al Harasi, Nishath Hamza, Manal Al Kharusi, Hibah Al Hasni, Ali Al Yahmadi

and

Waad Allah Mula Abed

National Genetic Centre, Royal Hospital, Oman

9p13.12 deletion syndrome is a rare genetic disorder in which a small section of the short arm of chromosome 19 is

deleted. It is a newly identified syndrome which is characterized by developmental delay, learning impairment and facial

dysmorphism. We report a 4-year-old Omani girl with 19p13.12 micro-deletion syndrome. She was born as full-term to a

non-related parent with global developmental delay, hypotonia and dysmorphism. She presented with multiple phenotypic

skeletal abnormalities, hypotonia, and facial dysmorphism including frontal bossing, down slanting palpebral fissures,

maxillary hypoplasia, bi-temporal narrowing, arachnodactyly and strabismus. Skeletal survey radiographs revealed thin long

bones and square shaped of some vertebral bodies. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) of

the brain were unremarkable. Parents and the older sibling daughter were asymptomatic. Using array comparative genomic

hybridization (CGH) analysis, a novel 1,594 kbp deletion at 19p13.12 was identified with 53 genes on which 35 are OMIM

genes. These include

NFIX

(OMIM #164005),

MAN2B1

(OMIM #609458),

NFIX

(OMIM # 615094),

CACNA1A

(OMIM #

601011) and

GCDH

(OMIM # 608801) that could be responsible for the presented phenotypes (global developmental delay

and varies skeletal anomalies). This was found to be a de nova mutation by investigating the parents. We present this patient as

the first case reported in Oman and the Gulf region.

J Mol Genet Med 2018, Volume 12

DOI: 10.4172/1747-0862-C2-028