Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis-Reference-Cited by-同舟云学术

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

Published:2019-02-08 Issue:4 Volume:179 Page:650-654
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Poreau Brice¹²,Ramond Francis³,Harbuz Radu¹,Satre Véronique¹⁴,Barro Claire⁵,Vettier Claire⁵,Adouard Véronique³,Thevenon Julien¹,Jouk Pierre-Simon¹,Coutton Charles¹⁴,Touraine Renaud³,Dieterich Klaus¹²^ORCID

Affiliation:

1. Département de Génétique et Procréation; Centre Hospitalo-Universitaire Grenoble Alpes; Grenoble Cedex France

2. Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN; 38000 Grenoble France

3. Département de Génétique Clinique; Chromosomique et Moléculaire, CHU-Hôpital Nord; Saint Etienne France

4. Equipe "Genetics Epigenetics and Therapies of Infertility" Institut Albert Bonniot, INSERM U823; La Tronche France

5. Département d'Hématologie, Oncogénétique, Immunologie; Centre Hospitalo-Universitaire Grenoble Alpes; Grenoble Cedex France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61057/fullpdf

Reference13 articles.

1. KCNE4 and KCNE5: K(+) channel regulation and cardiac arrythmogenesis;Abbott;Gene,2016

2. AMMECR1: A single point mutation causes developmental delay, midface hypoplasia and elliptocytosis;Andreoletti;Journal of Medical Genetics,2016

3. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1;Basel-Vanagaite;Gene,2017

4. Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies;Bath;Cytogenetic and Genome Research,2006

5. Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability;Gazou;American Journal of Medical Genetics. Part A,2013

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1. TMEM164 is a new determinant of autophagy-dependent ferroptosis;Autophagy;2022-08-22

2. Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype;Frontiers in Genetics;2021-10-29