1.Penjujukan Eksom Bagi Penyakit Jarang Jumpa, Mullerian Agenesis dan Agenesis Anotectal anomaly: Kajian Kes (Whole Exome Sequencing of a Rare Disease, Mullerian Agenesis and Anorectal Anomaly: A Case Report)
Siti Aishah Sulaiman ; Nor Azian Abdul Murad ; Yock Ping Chow ; Muhammad-Redha Abdullah-Zawawi ; Zam Zureena Mohd Rani ; Siti Nurmi Nasir ; Salwati Shuib ; Dayang Anita Abdul Aziz ; Hana Azhari ; Sharifah Azween Syed Omar ; Zarina Abdul Latiff ; Rahman Jamal
Malaysian Journal of Health Sciences 2024;22(No.2):18-38
Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a
congenital defect in the Mullerian duct that results in the absence of a uterus in women. The
aetiology of this syndrome is unknown and has been considered a sporadic genetic disease.
MRKH, together with anorectal anomaly, is an extremely rare condition and has only been
reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with
rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old
Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula)
was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit
(ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated
using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01
were excluded, and the remaining variants were filtered based on de novo mutations,
autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by
biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3,
STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them,
the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the
mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27
biological processes that connected with 23 interactions, and are likely to cause MRKH
syndrome in this patient.
Result Analysis
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