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- Title
An Interesting Family: A Patient with Blended Phenotype with Sexual Development Disorder and Coenzyme Q10 Deficiency and His Sibling Diagnosed with Joubert.
- Authors
Atasay, Rümeysa; Yılmaz, Leyla Nur; Güleç, Ayten; Per, Hüseyin; Canpolat, Mehmet; Kiraz, Aslıhan; Dündar, Munis
- Abstract
Consanguineous marriages cause rare blended phenotypes in common geographies and the emergence of different homozygous diseases in the same family. In this article, a family in which different rare mechanisms come together as a result of consanguineous marriage is presented. A 2-yearold proband with a blended phenotype with sex development disorder and coenzyme Q10 deficiency has psychomotor retardation, micropenis, undescended testicles, dysmorphic findings, hypotonia, and the gonads have a bilateral testicular appearance and are located in the inguinal canal. In the patient's brother, who previously died due to hydrocephalus, a non-sense homozygous variant c.1051C>T p.(Arg351*) was detected in the 7th exon of the NM_001134830 transcript of the AHI1 gene. The patient's cytogenetic analysis result is: 46,XX,ish,der(X)t(X;Y)(p22.3;p11.2)(SRY+). In the molecular karyotyping analysis performed due to hypotonia, psychomotor retardation and dysmorphic findings; a change of 2.1 Mb in size was detected in the Xp22.33p22.32 region and 3.1 Mb in size in the Yp11.2 region. This change is 46,XX sex reversal 1; it has been associated with SRXX1 (OMIM number:#400045) disease. In the subsequent whole exome analysis, a c.437T>G (Phe146Cys) missense homozygous probable pathogenic variant was detected in the NM_016035 transcript in the 5th exon of the COQ4 gene, which explains other clinical findings. In primary deficiency of coenzyme Q10 (OMIM number: #616276), which is a lipid component of the mitochondrial respiratory chain, symptoms vary; hypotonia, decreased coQ levels in muscle tissue, regression in psychomotor development, seizures, and increased serum lactate levels are observed. It is generally lethal in the first years of life, and in this respect, it is thought that the clinical findings of the proband will contribute to the literature with their milder course. To our knowledge, there is no other case in the literature reporting a sexual development anomaly or primary CoQ10 deficiency.
- Subjects
UBIQUINONES; SEX differentiation disorders; STEPFAMILIES; PATIENTS' families; SEX reversal; EPILEPSY; NEMALINE myopathy
- Publication
Gazi Medical Journal, 2024, Vol 35, p51
- ISSN
1300-056X
- Publication type
Article