Table 5.
Summary of Previously Reported Hartsfield Syndrome Patients
| Genetic analysis | Brain imaging | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| ID | Sex/Age | c. Mutation | p. Mutation | Affected domain | HPE | Pituitary | |||
| 1 | M/5 y | c494T > C | p.Leu165Ser | Ig II | AL | Normal | NR | Died at age 5 y | 1 |
| 2 | M/4 y | c572T > C | p.Leu191Ser | Ig II | L | NR | NR | Died at age 4 y | 1 |
| 3 | M/14 y | c758A > C | p.His253Pro | Ig III | SL | Normal | HH | NR | 5 |
| 4 | M/19 y | c1029G > A | p.Ala343Ala | Ig III | L | NR | HH | Has mild intellectual disability | 9 |
| 5 | F/14 y | c1029G > A | p.Ala343Ala | Ig III | Abnormal corpus callosum | NR | CDI | Has mild developmental delay and intellectual disability | 9 |
| 6 | NR | c1454G < T | p.Gly485Val | TK | NR | NR | NR | NR | 6 |
| 7 | M/33 y | c1459G > T | p.Gly487Asp | TK | Abnormal corpus callosum | NR | CDI, HH, mild hypothyroidism | Resides in home with 24-h community living support staff | 7 |
| 8 | M/7 mo | c1460G < A | p.Gly487Asp | TK | L | NR | NR | NR | 3 |
| 9 | M/12 y | c1468G > C | p.Gly490Arg | TK | SL | NR | NR | Has developmental age of about 7 mo | 1 |
| 10 | F/NR | c1867G > T | p.Asp623Tyr | TK | L | NR | CDI, HH, normal GH secretion, low response to TRH | Mainstream school with support | 1 |
| 11 | M/33 y | c1868A > C | p.Asp623Ala | TK | L | No high intensity in posterior pituitary gland | HH, normal GH secretion, adipsia-hypernatremia | Works at welfare workshop | Patient in present study |
| 12 | M/7 y | c1868A > G | p.Asp623Gly | TK | SL | NR | NR | Presented with severe intellectual disability with absent speech | 9 |
| 13 | NR | c1869C > G | p.Asp623Glu | TK | HPE | NR | NR | NR | 3 |
| 14 | M/6 y | c1880G > C | p.Arg627Thr | TK | SL | NR | CDI, GH deficiency | NR | 2 |
| 15 | M/0Y | c1880G > C | p.Arg627Thr | TK | SL | NR | NR | NR | 2 |
| 16 | M/1Y | c1883A < G | p.Asn628Ser | TK | SL | NR | CDI, HH | Has tumoral calcinosis | 4 |
| 17 | M/19Y | c1884 T > G | p.Asn628Lys | TK | SL | Normal | CDI, HH, normal GH secretion, low response to TRH | Lives in an institution | 1 |
| 18 | F/11Y | c1921G > A | p.Asp641Asn | TK | SL | Hypoplasia | GH neurosecretary dysfunction, neurogenic hypernatremia | Has developmental delay | 3 |
| 19 | M/12Y | c1934C > T | p.Ala645Val | TK | L | NR | DI (suspected at 4 mo)→hypodipsia-hypernatremia (diagnosed at age 10 y) | NR | 8 |
| 20 | M/29Y | c2174 G > A | p.Cys725Tyr | TK | L | Normal | CDI, HH, normal GH secretion, low response to TRH | Works in sheltered workshop | 1 |
Abbreviations: AL, alobar; CDI, central diabetes insipidus; DI, diabetes insipidus; F, female; GH, growth hormone; HH, hypogonadotropic hypogonadism; HPE, holoprosencephaly; ID, identification; Ig II, immunoglobulin-like 2 domain, Ig III; immunoglobulin-like 3 domain; L, lobar; M, male; NR, not reported; SL, semilobar; TK, tyrosine kinase domain; TRH, thyrotropin-releasing hormone.