[1] Sandal S, Verma IC, Mahay SB, et al.Next-generation sequencing in unexplained intellectual disability[J].Indian J Pediatr, 2024, 91(7):682-695.
[2] Rahikkala E, Myllykoski M, Hinttala R, et al.Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)[J].Genet Med, 2019, 21(10):2355-2363.
[3] Kaasinen E, Rahikkala E, Koivunen P, et al.Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome[J].Eur J Med Genet, 2014, 57(10):543-551.
[4] Hay E, Wilson LC, Hoskins B, et al.Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency[J].Eur J Hum Genet, 2021, 29(10):1536-1541.
[5] Järvelä I, Määttä T, Acharya A, et al.Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland[J].Hum Genet, 2021, 140(7):1011-1029.
[6] Maddirevula S, Ben-Omran T, AlMureikhi M, et al.Further delineation of HIDEA syndrome[J].Am J Med Genet A, 2020, 182(12):2999-3006.
[7] Kraatari-Tiri M, Soikkonen L, Myllykoski M, et al.HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4HTM protein[J].Clin Genet,2022, 102(5):444-450.
[8] Harvengt J, Lumaka A, Fasquelle C, et al.HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome[J].Front Genet,2023, 14:1137767.
[9] Lim AM, Tan PL, Visruthan NK, et al.HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant[J].Pediatr Pulmonol,2022, 57(7):1826-1829.
[10] Richards S, Aziz N, Bale S, et al.Standards and guidelines for the interpretation of sequence variants:A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J].Genet Med, 2015, 17(5):405-424.
[11] Hyvärinen J, Parikka M, Sormunen R, et al.Deficiency of a Transmembrane Prolyl 4-Hydroxylase in the zebrafish leads to basement membrane defects and compromised kidney function[J].J Biol Chem, 2010, 285(53):42023-42032.
[12] Koivunen P, Tiainen P, Hyvärinen J, et al.An endoplasmic reticulum Transmembrane Prolyl 4-Hydroxylase is induced by hypoxia and acts on hypoxia-inducible factor α[J].J Biol Chem, 2007, 282(42):30544-30552. |
