FLNA mutations with presumed gain of function are reported in association with four disorders (Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome type I, and Oto-palato-digital syndrome type II). There is overlap of the various findings with these conditions. However, the main features are skeletal findings such as craniofacial abnormalities, scoliosis, and digit abnormalities as well as deafness and genitourinary findings. This laboratory performs Sanger sequencing of the entire gene, targeted sequencing of exons 3-5 or exon 22, and deletion/duplication of select exons (4, 11, 22, 25, 29, 39, and 46) by MLPA of the FLNA gene. Otopalatodigital syndrome testing involves sequencing of exons 3-5 only.
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Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
If Melnick-Needles syndrome is suspected, then beginning with mutation analysis of exon 22 may be considered.
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FLNA, exons 3-5