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A family of Melnick-Needles syndrome: a case report
Chi Hoon Oh1, Chang Ho Lee2, So Young Kim2
1Department of Orthopaedic Surgery, CHA Bundang Medical Center, CHA University School of Medicine, Gyeonggi-do, Republic of Korea.
Background:
Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe three members of the same family with MNS, who exhibited different phenotypic severity despite having an identical FLNA gene mutation.
Case Presentation:
The patient was 16 months old, with a history of delayed physical development, multiple upper respiratory infections and otitis media episodes. She was referred to our orthopedic clinic because of bowed legs and an abnormal plain chest radiograph. Both upper and lower extremities were bowed. Plain X-rays showed thoracolumbar kyphoscoliosis, with anterior and posterior vertebral scalloping, and thin, wavy ribs. Hypoplasia of the pubis and ischium, with bilateral coxa valga, were also noted. Target exome sequencing revealed a heterozygous mutation of FLNA, c.3578 T > C, p.Lys1193Pro, which confirmed the diagnosis of MNS. Her older sister and mother had minimal deformities of the axial and extremity skeleton, but genetic analyses revealed the same FLNA mutation as the patient. The mutation identified in this family has not been previously reported.
Conclusion:
This report illustrates the potential inherited nature of MNS and the phenotypic variability of clinicoradiologic characteristics. In patients with traits suggestive of MNS, a careful medical and family history should be obtained, and genetic testing should be performed for the patient, as well as all family members.
Insights
Melnick-Needles syndrome (MNS), a rare skeletal disorder, shows varied severity in families despite identical FLNA gene mutations. Genetic testing is crucial for diagnosis and understanding inheritance patterns.
Area of Science:
- Genetics
- Skeletal Dysplasias
- Rare Diseases
Background:
- Melnick-Needles syndrome (MNS) is an X-linked dominant osteochondrodysplasia caused by mutations in the FLNA gene.
- Filamin A (FLNA) is crucial for cellular structure and function, and its mutations lead to skeletal abnormalities.
Observation:
- A family presented with MNS, including a 16-month-old girl with severe skeletal deformities and her mother and sister with milder symptoms.
- Radiographic findings revealed thoracolumbar kyphoscoliosis, vertebral scalloping, thin ribs, and pelvic hypoplasia.
- Genetic analysis identified the same FLNA mutation (c.3578T>C, p.Lys1193Pro) in all affected family members, a previously unreported mutation.
Findings:
- Identical FLNA mutations can result in a wide spectrum of clinical severity in MNS.
- The inheritance pattern of MNS is X-linked dominant, but phenotypic expression can vary significantly.
- This case highlights a novel FLNA mutation contributing to MNS.
Implications:
- Emphasizes the importance of comprehensive family history and genetic testing for MNS diagnosis.
- Suggests that FLNA mutations may have variable penetrance or be influenced by other genetic/environmental factors.
- Further research into FLNA's role in skeletal development is warranted to understand MNS pathogenesis.
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