Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech

Tomblin JB, Records NL, Buckwalter P, Zhang X, Smith E, O’Brien M. Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res. 1997;40:1245–60.

Article  CAS  PubMed  Google Scholar 

Norbury CF, Gooch D, Wray C, Baird G, Charman T, Simonoff E, et al. The impact of nonverbal ability on prevalence and clinical presentation of language disorder: evidence from a population study. J Child Psychol Psychiatry. 2016;57:1247–57.

Article  PubMed  PubMed Central  Google Scholar 

Weindrich D, Jennen-Steinmetz C, Laucht M, Esser G, Schmidt MH. Epidemiology and prognosis of specific disorders of language and scholastic skills. Eur Child Adolesc Psychiatry. 2000;9:186–94.

Article  CAS  PubMed  Google Scholar 

Bishop DVM, Snowling MJ, Thompson PA, Greenhalgh T, the CATALISE-2 consortium. Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: terminology. J Child Psychol Psychiatry. 2017;58:1068–80.

Article  PubMed  PubMed Central  Google Scholar 

Law J, Boyle J, Harris F, Harkness A, Nye C. Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature. Int J Lang Commun Disord. 2000;35:165–88.

Article  CAS  PubMed  Google Scholar 

den Hoed J, Fisher SE. Genetic pathways involved in human speech disorders. Curr Opin Genet Dev. 2020;65:103–11.

Article  Google Scholar 

Chilosi AM, Podda I, Ricca I, Comparini A, Franchi B, Fiori S, et al. Differences and commonalities in children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental disorders: a multidimensional perspective. J Pers Med. 2022;12:313.

Article  PubMed  PubMed Central  Google Scholar 

Choudhury N, Benasich AA. A family aggregation study: the influence of family history and other risk factors on language development. J Speech Lang Hear Res. 2003;46:261–72.

Article  PubMed  Google Scholar 

Lewis BA, Thompson LA. A study of developmental speech and language disorders in twins. J Speech Hear Res. 1992;35:1086–94.

Article  CAS  PubMed  Google Scholar 

Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, et al. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Mol Psychiatry. 2019;24:1065–78.

Article  CAS  PubMed  Google Scholar 

Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, et al. Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation. Neurology. 2020;94:e2148–67.

Article  PubMed  Google Scholar 

Yahia A, Li D, Lejerkrans S, Rajagopalan S, Kalnak N, Tammimies K. Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder. Hum Genet. 2024;143:169–83.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, et al. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am J Hum Genet. 2022;109:909–27.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nat Commun. 2020;11:6087.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, et al. 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. Eur J Hum Genet. 2022;30:712–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 2012;485:363–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, et al. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Mol Psychiatry. 2019;24:1329–50.

Article  CAS  PubMed  Google Scholar 

Mollon J, Almasy L, Jacquemont S, Glahn DC. The contribution of copy number variants to psychiatric symptoms and cognitive ability. Mol Psychiatry. 2023;28:1480–93.

Article  PubMed  PubMed Central  Google Scholar 

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22:245–57.

Article  PubMed  Google Scholar 

Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020;22:538–46.

Article  CAS  PubMed  Google Scholar 

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, et al. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen hearing loss Expert Panel. Genet Med. 2019;21:2442–52.

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, et al. Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: report on a four-member family and an unrelated boy. Mol Genet Genomic Med. 2020;8:e1109.

Article  PubMed  PubMed Central  Google Scholar 

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, et al. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2017;22:836–49.

Article  CAS  PubMed  Google Scholar 

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358:667–75.

Article  CAS  PubMed  Google Scholar 

Taylor CM, Smith R, Lehman C, Mitchel MW, Singer K, Weaver WC, et al. 16p11.2 recurrent deletion. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Beproxian LJ, et al. editors. GeneReviews® [Internet]. Seattle (WA). University of Washington, Seattle; 1993. [cited 2024 Aug 23]. http://www.ncbi.nlm.nih.gov/books/NBK11167/.

Hippolyte L, Maillard AM, Rodriguez-Herreros B, Pain A, Martin-Brevet S, Ferrari C, et al. The number of genomic copies at the 16p11.2 Locus modulates Language, Verbal Memory, and inhibition. Biol Psychiatry. 2016;80:129–39.

Article  CAS  PubMed  Google Scholar 

Mei C, Fedorenko E, Amor DJ, Boys A, Hoeflin C, Carew P, et al. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. Eur J Hum Genet. 2018;26:676–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim SH, Green-Snyder L, Lord C, Bishop S, Steinman KJ, Bernier R, et al. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet. 2020;183:380–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Uliana V, Bonatti F, Zanatta V, Mozzoni P, Martorana D, Percesepe A. Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene. J Genet. 2019;98:10.

Article  PubMed 

留言 (0)

沒有登入
gif