RRML - Functional insights into a rare X–autosome rearrangement: Xq23–12p13 translocation in primary amenorrhea and recurrent depression
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.5
Five Year Impact Factor 0.5
JCI 0.12

Advanced search

Top 10 downloaded articles
- January 2026 -
 
Evaluation of the impact of vi... 14
Romanian Review of Laboratory ... 12
Cybersecurity requirement of I... 11
Hematologic predictors of in-h... 10
On the relationship between CT... 9
Using deep learning methods to... 9
Evaluation of Plasma AA/DHA+EP... 8
Expressions of TGF-β1 and VEG... 8
Understanding the key differen... 8
CALLY index, but not HALP scor... 8

Log in

Concept, Design & Programming
Dr. Adrian Man
   
 
Ahead of print DOI:10.2478/rrlm-2026-0003
XML
TXT

Case report

Functional insights into a rare X–autosome rearrangement: Xq23–12p13 translocation in primary amenorrhea and recurrent depression

İlyas Yücel, Gülbahar Güzel Erdal, Mahir Binici, Diclehan Oral, Mahmut Balkan, Elif Ademoğlu, Selahattin Tekeş, Mert İpekçi

Correspondence should be addressed to: Gülbahar Güzel Erdal

Abstract:

Background: Chromosomal translocations, particularly X–autosome rearrangements, are rare and can produce complex clinical phenotypes even in carriers who appear phenotypically normal. Case presentation: We present a female patient with primary amenorrhea, hypergonadotropic hypogonadism, and recurrent major depressive episodes. Cytogenetic analysis revealed a previously unreported karyotype: 46,X,t(X;12)(Xpter→Xq24::12p13→12pter;Xqter→Xq24::12p13→12qter). Array-CGH analysis confirmed that the translocation was balanced and no pathogenic copy number alterations were detected. As both parents’ karyotypes were normal, this rearrangement arose de novo. The Xq23 region contains genes involved in neuronal activity, synaptic transmission, and behaviour regulation, such as TRPC5, HTR2C, PAK3, AMMECR1, and nearby gene PLS3. The 12p13 region, on the other hand, harbours genes associated with calcium signalling, NMDA receptor function, and neurotrophic support, such as TNFRSF1A, CACNA1C, GRIN2B, FKBP4, and NTF3. PLS3 and AMMECR1 may influence cytoskeletal structure and neuronal migration. The proximity of these loci may lead to changes in gene expression through interaction with regulatory elements. This combination may explain the possible genetic basis for the simultaneous occurrence of gonadal insufficiency, primary amenorrhoea, and neuropsychiatric findings. Computational analyses suggest that these genes may jointly modulate neuroplasticity, hypothalamic–pituitary–gonadal axis function, and neuroinflammatory responses. Conclusions: This case highlights the importance of cytogenetic, molecular, and computer-assisted analyses in evaluating X–autosomal translocations in patients with unexplained amenorrhoea or recurrent depressive symptoms. Furthermore, candidate genes at breakpoints emerge as potential targets for future functional and clinical studies.

Keywords: CACNA1C, de novo karyotype, GRIN2B, hypergonadotropic hypogonadism, in silico analysis, primary amenorrhea, TRPC5, X–autosome translocation

Received: 27.5.2025
Accepted: 2.12.2025
Published: 22.1.2026

 
  PDF Download full text PDF
(933 KB)