Melnick-Needles syndrome (MNS) is caused by one of three missense mutations in exon 22 of the FLNA gene. 100% of individuals with MNS have one of these three mutations in exon 22 of the FLNA gene. MNS is characterized by skeletal dysplasia with short stature, thoracic hypoplasia, limb bowing, joint subluxation, scoliosis, and digits of the hands and feet that are typically long with mild distal phalangeal hypoplasia. Other features include characteristic facial features, oligohypodontia, sensorineural and/or conductive hearing loss, and hydronephrosis secondary to ureteric obstruction. This laboratory performs targeted mutation analysis for the three mutations in exon 22 of the FLNA gene.
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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.
If there are questions regarding this test, please contact Client Services at 617-553-5880 or email@example.com
FLNA, exon 22