Background: Mulibrey Nanism (Muscle-liver-brain-eye Nanism;
MUL) is a rare autosomal recessive disorder caused by pathogenic variants in
the TRIM37 gene. It is characterised by postnatal growth retardation,
craniofacial dysmorphism, organ involvement including hepatomegaly and
cardiomyopathy, and predisposition to tumours. Jacobs Syndrome (47, XYY) is a
sex chromosome aneuploidy that may present with tall stature, behavioural
issues, or be asymptomatic. Co-occurrence of these two conditions is extremely
rare and poses diagnostic challenges.
Case Description: A 6-year-old boy was referred for genetic
evaluation due to clinical features resembling Silver-Russell syndrome.
Detailed genetic investigation was undertaken using a combination of classical
and advanced techniques. Cytogenetic analysis with G-banding revealed a mosaic
karyotype: 47, XYY[25]/46, XY[25], diagnostic of Jacobs Syndrome. Chromosomal
microarray (CMA) confirmed a mosaic gain of the Y chromosome and showed no
additional pathogenic copy number variations. Whole exome sequencing (WES)
identified a homozygous nonsense variant c.586C>T in the TRIM37 gene,
confirming the diagnosis of Mulibrey Nanism.
Conclusion: Accurate diagnosis of syndromic presentations
requires a stepwise approach and the use of multiple genetic modalities. This
case exemplifies the value of exhaustive testing in unravelling rare genetic
overlaps and guiding appropriate clinical management.
Author(s) Details
Pritti Kumari
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney
Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation
Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.
Rohina Aggarwal
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and
Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences
(IKDRC-ITS), Ahmedabad, India.
Akshi Valodara
Genetics Division, Department of Obstetrics and Gynecology, Institute of
Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation
Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.
Hetvi Patel
Genetics Division, Department of Obstetrics and Gynecology, Institute of
Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of
Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad
380016, India.
Dipak Dhoriya
Genetics Division, Department of Obstetrics and Gynecology, Institute of
Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of
Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad
380016, India.
Ankita Suthar
Genetics Division, Department of Obstetrics and Gynecology, Institute of
Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of
Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad
380016, India.
Somesh Aggarwal
Department of Opthalmology, M & J Regional Institute of Ophthalmology,
Ahmedabad, India.
Please see the book here:- https://doi.org/10.9734/bpi/aodhr/v5/6029
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