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Isolated growth hormone deficiency type III was originally reported as part of an X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) syndrome. In the single affected family, BTK mRNA and protein levels in peripheral blood mononuclear cells were normal and cDNA sequencing revealed only a silent change, with no pathogenic BTK variants detected (PMID:7650402). These findings refute a role for BTK in isolated growth hormone deficiency type III, indicating that other X‐linked loci underlie this syndrome. BTK genetic testing is therefore not indicated in patients presenting with isolated growth hormone deficiency type III.
Gene–Disease AssociationRefutedSingle XLA/GHD family showed normal BTK mRNA and protein with no pathogenic variants ([PMID:7650402]). Genetic EvidenceLimitedOne proband without pathogenic BTK variants ([PMID:7650402]). Functional EvidenceNo evidenceNormal BTK expression and activity in affected patient ([PMID:7650402]). |